Linked Data
dbSNP Id:
rs2230911
ExAC:
12:121615131 C / G
gnomAD v2:
12-121615131-C-G
gnomAD v3:
12-121177328-C-G
gnomAD v4:
12-121177328-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177328C>G , CM000674.2:g.121177328C>G | GRCh38 |
| NC_000012.11:g.121615131C>G , CM000674.1:g.121615131C>G | GRCh37 |
| NC_000012.10:g.120099514C>G | NCBI36 |
| NG_011471.2:g.49454C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1070C>G MANE Select | ENSP00000330696.6:p.Thr357Ser | |
| ENST00000261826.10:c.*523C>G | ENSP00000261826.6:n.*523C>G | |
| ENST00000328963.9:c.1070C>G | ENSP00000330696.6:p.Thr357Ser | |
| ENST00000535250.5:c.1154C>G | ENSP00000442572.2:n.1154C>G | |
| ENST00000535600.2:c.887C>G | ENSP00000442470.1:n.887C>G | |
| ENST00000537312.5:c.*841C>G | ENSP00000438586.1:n.*841C>G | |
| ENST00000538011.5:c.1209C>G | ENSP00000439247.1:n.1209C>G | |
| ENST00000539606.5:c.1293C>G | ENSP00000445325.1:n.1293C>G | |
| ENST00000539695.5:n.1239C>G | ||
| ENST00000541022.5:c.860C>G | ENSP00000441230.1:n.860C>G | |
| ENST00000541564.5:c.933C>G | ENSP00000443640.1:n.933C>G | |
| ENST00000541716.5:c.1081C>G | ENSP00000437729.1:n.1081C>G | |
| NM_002562.5:c.1070C>G | NP_002553.3:p.Thr357Ser | |
| NR_033948.1:n.1436C>G | ||
| NR_033949.1:n.1352C>G | ||
| NR_033950.1:n.1313C>G | ||
| NR_033951.1:n.1297C>G | ||
| NR_033952.1:n.1224C>G | ||
| NR_033953.1:n.1137C>G | ||
| NR_033954.1:n.1116C>G | ||
| NR_033955.1:n.1076C>G | ||
| NR_033956.1:n.1003C>G | ||
| XM_011538418.1:c.803C>G | XP_011536720.1:p.Thr268Ser | |
| XM_011538419.1:c.758C>G | XP_011536721.1:p.Thr253Ser | |
| XM_011538420.1:c.203C>G | XP_011536722.1:p.Thr68Ser | |
| XR_945459.1:n.190-14911G>C | ||
| XR_945460.1:n.299-14911G>C | ||
| XM_011538419.3:c.758C>G | XP_011536721.1:p.Thr253Ser | |
| XM_011538420.3:c.203C>G | XP_011536722.1:p.Thr68Ser | |
| XM_017019364.2:c.710C>G | XP_016874853.1:p.Thr237Ser | |
| XM_017019365.2:c.710C>G | XP_016874854.1:p.Thr237Ser | |
| XM_017019366.2:c.317C>G | XP_016874855.1:p.Thr106Ser | |
| XM_017019367.2:c.317C>G | XP_016874856.1:p.Thr106Ser | |
| XR_001749352.2:n.186+26170G>C | ||
| XR_001749353.2:n.304-14911G>C | ||
| XR_001749354.2:n.186+26170G>C | ||
| XR_945459.3:n.187-14911G>C | ||
| XR_945460.3:n.299-14911G>C | ||
| NM_002562.6:c.1070C>G MANE Select | NP_002553.3:p.Thr357Ser | |
| NR_033948.2:n.1388C>G | ||
| NR_033949.2:n.1304C>G | ||
| NR_033950.2:n.1265C>G | ||
| NR_033951.2:n.1249C>G | ||
| NR_033952.2:n.1176C>G | ||
| NR_033953.2:n.1080C>G | ||
| NR_033954.2:n.1068C>G | ||
| NR_033955.2:n.1028C>G | ||
| NR_033956.2:n.955C>G |